DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: GSDMA ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs3894194	GSDMA	0.882	0.120	17	39965740	missense variant	G/A	snv	0.46	0.41	3
rs3859192	GSDMA	0.925	0.080	17	39972395	intron variant	C/T	snv		0.42	2
rs7212938	GSDMA	0.925	0.120	17	39966427	missense variant	G/A;C;T	snv	4.1E-04; 4.2E-06; 0.52		2
rs4580194	GSDMA	1.000	0.040	17	39970224	intron variant	A/G	snv		0.41	2
rs17609240	GSDMA			17	39954436	intron variant	T/A;G	snv			1
rs62066853	GSDMA			17	39974239	intron variant	T/C	snv	0.23	0.19	1